{"Name":"Propionic acidemia","DiseaseID__c":"GARD:0000467","id":467,"encodedName":"propionic-acidemia","IsDeleted":false,"Disease_Name_Full__c":"Propionic acidemia","Xref_IDs__c":"69080001; C0268579; C85030; D056693; DOID:14701; E71.121; HP:0003571; MEDGEN:75694; MONDO:0011628; NBK92946; OMIM:606054; ORPHA:35","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011628","Disease_Description__c":"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.","GARD_Name__c":"Propionic acidemia","GARD_Synonym__c":"glycinemia, ketotic; hyperglycinemia with ketoacidosis and leukopenia; hyperglycinemia with ketosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia; ketotic ii glycinemia; pcc - propionyl-coa carboxylase deficiency; prop; propionic aciduria; propionyl-coa carboxylase deficiency","Curated_Disease_Description_Source__c":"GARD:0000467","Curated_Disease_Description__c":"Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time.  Some affected children experience intellectual disability or delayed development.  In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:35","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011628","ORPHANET_ID__c":"ORPHA:35","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidemia propiónica","Spanish_Description_Source__c":"ORPHA:35","Spanish_Description__c":"La acidemia propiónica (AP) es una aciduria orgánica causada por deficiencias en la actividad de la propionil CoA-carboxilasa, y se caracteriza por episodios potencialmente mortales de descompensación metabólica y disfunción neurológica que se pueden complicar por miocardiopatía.","Spanish_Disease_Name__c":"acidemia propiónica","Spanish_GARD_Synonym__c":"aciduria propiónica; deficiencia de propionil-coa carboxilasa; hiperglicinemia cetósica","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time.  Some affected children experience intellectual disability or delayed development.  In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.","Curated_Disease_Description_Source__c":"GARD:0000467","GARD_Synonym__c":"glycinemia, ketotic; hyperglycinemia with ketoacidosis and leukopenia; hyperglycinemia with ketosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia; ketotic ii glycinemia; pcc - propionyl-coa carboxylase deficiency; prop; propionic aciduria; propionyl-coa carboxylase deficiency","Name":"Propionic acidemia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.org/"},{"Account_Name__c":"Propionic Acidemia Foundation","Website__c":"https://www.pafoundation.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:35"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/PROP"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268579"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000467","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK92946","Source__c":"Gene Review","Xref__c":"NBK92946"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E71.121","Source__c":"MONDO:0011628","Xref__c":"E71.121"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056693","Source__c":"C0268579; MONDO:0011628","Xref__c":"D056693"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14701","Source__c":"MONDO:0011628","Xref__c":"DOID:14701"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=69080001","Source__c":"C0268579; MONDO:0011628","Xref__c":"69080001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75694","Source__c":"C0268579","Xref__c":"MEDGEN:75694"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268579","Source__c":"C0268579","Xref__c":"C0268579"},{"URL__c":"https://www.orpha.net/en/disease/detail/35","Source__c":"C0268579; MONDO:0011628; ORPHA:35","Xref__c":"ORPHA:35"},{"URL__c":"https://www.omim.org/entry/606054","Source__c":"C0268579; MONDO:0011628; ORPHA:35","Xref__c":"OMIM:606054"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85030","Source__c":"C0268579; MONDO:0011628","Xref__c":"C85030"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003571","Source__c":"C0268579","Xref__c":"HP:0003571"},{"URL__c":"https://medlineplus.gov/genetics/condition/propionic-acidemia","Source__c":"GARD:0000467","Xref__c":"https://medlineplus.gov/genetics/condition/propionic-acidemia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011628","Source__c":"GARD:0000467","Xref__c":"MONDO:0011628"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCCA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pcca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PCCB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pccb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003353","HPO_Name__c":"Propionyl-CoA carboxylase deficiency","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excretion of non-amino organic acids in urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001992","HPO_Name__c":"Organic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["glycinemia, ketotic"," hyperglycinemia with ketoacidosis and leukopenia"," hyperglycinemia with ketosis and leukopenia"," ketotic glycinemia"," ketotic hyperglycinemia"," ketotic ii glycinemia"," pcc - propionyl-coa carboxylase deficiency"," prop"," propionic aciduria"," propionyl-coa carboxylase deficiency"]}